PURPOSE:Varying clinical phenotypes are associated with the chromosome 22q11.2 microdeletion syndrome. The endocrine manifestation are latent or overt hypoparathyroidism, thyroid dysfunction and short stature. This study was undertaken to investigate frequencies of endocrine abnormalities and short stature in patients with the chromosome 22q11.2 microdeletion syndrome. METHODS:Forty three unrelated patients were diagnosed having chromosome 22q11.2 microdeletion syndrome. Chromosomal microdeletion was confirmed by fluorescent in situ hybridation (FISH) with DNA probe (22q11.2 LSI TUPLE1 from Vysis). Serum total calcium and intact parathyroid hormone (PTH) were measured in all patients. Thyroid function tests including free thyroxine(T4), thyroid stimulating hormone (TSH) and thyroid autoantibodies were performed in all patients. Insulin-like growth factor-1 (IGF-1) was measured in 10 patients. Height, weight and body mass index were compared with chronological age in all patients. RESULTS:Seven patients (16%) had an overt hypoparathyroidism, presenting with hypocalcemic tetany. Thirteen patients (31%) showing hypocalcemia with normal PTH were regarded as having latent hypoparathyroidism since their PTH secretion response was blunted. Out of 2 patients with thyroid diseases, one patient had Graves disease and the other had Hashimoto thyroiditis. Five patients (12%) were below the 3rd percentile in height at evaluation. The BMI was below the 5th percentile in 23% of patients. CONCLUSION: Twenty patients (47%) presented with overt and latent hypoparathyroidism. Interestingly, autoimmune thyroid diseases such as Graves disease and Hashimoto thyroiditis were associated in patients with chromosome 22q11.2 microdeletion, indicating predisposition to autoimmune disorders. Therefore, a careful endocrine and growth evaluation is needed in these patients.
Autoantibodies ; Body Mass Index ; Calcium ; DNA ; Graves Disease ; Hashimoto Disease ; Humans ; Hypocalcemia ; Hypoparathyroidism ; Parathyroid Hormone ; Phenotype ; Tetany ; Thyroid Diseases ; Thyroid Function Tests ; Thyroid Gland ; Thyrotropin

OBJECTIVE: To investigate new signal transduction cascade through integrin, FAK and ERK in the suppressed cell proliferation by GnRH-I and -II. METHOD: Human endometrial cancer cells (HEC1A) were cultured under the following condition: DMEM/F12 (10% FBS). GnRH-I and -II were treated time (0, 5, 10, 15, 20, 30 min; 100 nM) and dose (10 nM or 100 nM; 20 min) dependent manner according to experimental purposes. Cell proliferation was measured using [3H] thymidine incorporation assay. Immunoblotting was utilized to detect proteins. RESULTS: GnRH-I and -II inhibited proliferation of HEC1A cells and induced expression of integrin beta3. Phosphorylation of FAK and ERK were induced by GnRH-I and -II. CONCLUSION: GnRH inhibited cell proliferation via the expression of integrin and FAK, ERK phosphorylation.
Cell Proliferation* ; Endometrial Neoplasms* ; Female ; Gonadotropin-Releasing Hormone* ; Humans ; Immunoblotting ; Integrin beta3 ; Phosphorylation ; Signal Transduction ; Thymidine

No abstract available.
Child* ; Humans ; Lupus Erythematosus, Systemic*

No abstract available.
Cataract* ; Nephrotic Syndrome*

No abstract available.
Nephrotic Syndrome*

No abstract available.
Captopril* ; Child* ; Humans ; Hypertension*

Two cases of vaginal injury due to Coitus are presented. One is the case of the laceration of midportion of posterior vaginal wall with shock and the other one in the laceration of posterior vaginal fornix and pelvic peritoneum. They are all in multiparity. And a review of literature on vaginal injury due to coitus is made briefly.
Coitus* ; Female ; Lacerations ; Parity ; Peritoneum ; Shock

Marjolin's ulcer is a malignant degeneration of cicatrical tissue, especially in chronic burn scar. Since the first description by Jean Nicholas Marjolin(1828), many studies for Marjolin's ulcer have been performed and reported. From 1985 to 1997, we experienced 20 cases in 14 patients diagnosed as Marjolin's ulcer clinically, and we analysed malignant transformation rate, induction period of Marjolin's ulcer and prevention of Marjolin's ulcer, etc. The results are summarized as follows. 1) The sex distribution was predominant in male(64.3%). 2) The most common cause of injury was flame burn(78.6%). 3) The mean age at the time of diagnosis was 45.6 years and the average lag period was 20.6 years. 4) The pathologic types of Marjolin's ulcer were squamous cell carcinoma(57.2%), followed by dyspasia(28.6%), acnthosis and hyperkeratosis(14.2%). 5) The locations of ulcers were frequently on the lower extremity(42.9%), followed by upper extremity(35.7%) and trunk (21.4%). 6) The lymph node involvements were 3 patients out of the 8 patients who were confirmed as squamous cell carcinoma. 7) The modalities of treatment were skin graft (18 cases, 12 patients), myocutaneous flap(1 case, 1 patient), fasciocutaneous flap(1 case, 1 patient).
Burns ; Carcinoma, Squamous Cell ; Cicatrix ; Diagnosis ; Humans ; Lymph Nodes ; Sex Distribution ; Skin ; Transplants ; Ulcer*

No abstract available.
Child ; Child, Hospitalized* ; Humans ; Hypertension*

We present herein a case of painless piezogenic pedal papules occurring on the both heels of 25-year-old female patient, Histopathologic findings showed normal adipose tissue surrounded by loose fibrous tissue in the nid-dermis and thickening of venous wall. Hyalinized thick collagen bundles were distributed below the herniated adipose tissue in the nodular pattern. Her parents, one brother and sister had the sarne clinical features.
Adipose Tissue ; Adult ; Collagen ; Female ; Heel ; Humans ; Hyalin ; Parents ; Siblings